MCID: ACH004
MIFTS: 67

Achondroplasia

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Achondroplasia

MalaCards integrated aliases for Achondroplasia:

Name: Achondroplasia 53 12 72 72 23 49 24 55 71 36 28 13 51 41 14 69
Ach 53 49 24 71
Achondroplastic Dwarfism 49 24 69
Achondroplastic Physique 12
Osteosclerosis Congenita 12
Dwarf, Achondroplastic 24
Chondrodystrophia 12

Characteristics:

Orphanet epidemiological data:

55
achondroplasia
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (Italy),1-9/100000 (Sweden),1-9/100000 (Spain),1-9/100000 (Denmark),1-9/100000 (United States),1-9/100000 (Latin America),1-9/100000 (Australia); Age of onset: Neonatal; Age of death: elderly;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
autosomal dominant with complete penetrance
80% cases new mutations
99+% of the mutations are fgfr3, g380r
paternal age effect


HPO:

31
achondroplasia:
Mortality/Aging death in infancy
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Penetrance is 100%, meaning that all individuals who have a single copy of one of the fgfr3 pathogenic variants giving rise to achondroplasia have the clinical manifestations of the disorder...

Classifications:



Summaries for Achondroplasia

NIH Rare Diseases : 49 Achondroplasia is a disorder of bone growth that prevents the changing of cartilage (particularly in the long bones of the arms and legs) to bone. It is characterized by dwarfism, limited range of motion at the elbows, large head size (macrocephaly), small fingers, and normal intelligence. Achondroplasia can cause health complications such as interruption of breathing (apnea), obesity, recurrent ear infections, an exaggerated inward curve of the lumbar spine (lordosis). More serious problems include a narrowing of the spinal canal that can pinch (compress) the upper part of the spinal cord (spinal stenosis) and a buildup of fluid in the brain (hydrocephalus). Some people with achondroplasia may have delayed motor development early on, but cognition is normal. Achondroplasia is caused by mutations in the FGFR3 gene. Inheritance is  autosomal dominant. Treatment may include medication with growth hormone, and surgery aimed to correct the spine, or bone problems, as well, as to reduce the pressure inside the brain in cases of hydrocephaly.Prognosis with achondroplasia is good except in cases of y spinal compression at the neck. Last updated: 12/20/2017

MalaCards based summary : Achondroplasia, also known as ach, is related to hypochondroplasia and spondyloepiphyseal dysplasia with congenital joint dislocations, and has symptoms including joint stiffness, macrocephaly and obesity. An important gene associated with Achondroplasia is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are ERK Signaling and TGF-Beta Pathway. The drugs Natriuretic Agents and Natriuretic Peptide, C-Type have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and spinal cord, and related phenotypes are growth/size/body region and craniofacial

OMIM : 53 Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995). (100800)

UniProtKB/Swiss-Prot : 71 Achondroplasia: A frequent form of short-limb dwarfism. It is characterized by a long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands.

Genetics Home Reference : 24 Achondroplasia is a form of short-limbed dwarfism. The word achondroplasia literally means "without cartilage formation." Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development. However, in achondroplasia the problem is not in forming cartilage but in converting it to bone (a process called ossification), particularly in the long bones of the arms and legs. Achondroplasia is similar to another skeletal disorder called hypochondroplasia, but the features of achondroplasia tend to be more severe.

Disease Ontology : 12 An osteochondrodysplasia that results_in dwarfism which has material basis in abnormal ossification of cartilage in located in long bone.

GeneReviews: NBK1152

Related Diseases for Achondroplasia

Diseases related to Achondroplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 144, show less)
# Related Disease Score Top Affiliating Genes
1 hypochondroplasia 31.3 FGF3 FGFR1 FGFR2 FGFR3 NPPC SHOX
2 spondyloepiphyseal dysplasia with congenital joint dislocations 30.2 ACAN FGFR3
3 leri-weill dyschondrosteosis 29.8 FGFR3 SHOX
4 craniosynostosis 29.6 FGFR1 FGFR2 FGFR3
5 synostosis 29.5 FGFR1 FGFR2 FGFR3
6 thanatophoric dysplasia, type i 29.4 COMP FGFR2 FGFR3 PTH1R
7 crouzon syndrome 29.4 FGFR1 FGFR2 FGFR3
8 pfeiffer syndrome 29.2 FGFR1 FGFR2 FGFR3
9 skeletal dysplasias 28.9 COMP FGFR3 NPPC PTH1R SOX9
10 osteoarthritis 28.9 ACAN COMP SOX9
11 achondroplasia, severe, with developmental delay and acanthosis nigricans 12.5
12 achondroplasia and severe combined immunodeficiency 12.2
13 achondroplasia and swiss type agammaglobulinemia 11.9
14 dwarfism 11.4
15 short-limb skeletal dysplasia with severe combined immunodeficiency 11.2
16 pseudoachondroplasia 11.2
17 hydrocephalus, nonsyndromic, autosomal recessive 1 11.2
18 rhizomelic chondrodysplasia punctata, type 1 11.0
19 chondrodysplasia punctata 2, x-linked dominant 10.9
20 x-linked chondrodysplasia punctata 10.9
21 atelosteogenesis, type i 10.9
22 boomerang dysplasia 10.9
23 mesomelia 10.9
24 pectus excavatum 10.3 ACAN FGFR3
25 acromesomelic dysplasia, maroteaux type 10.2 FGFR3 NPPC
26 luteoma 10.2 FGFR2 FGFR3
27 beare-stevenson cutis gyrata syndrome 10.2 FGFR2 FGFR3
28 aging 10.2
29 acromesomelic dysplasia 10.2 FGFR3 NPPC SHOX
30 sleep apnea 10.1
31 cervicitis 10.1
32 sleep disorder 10.1
33 metaphyseal chondrodysplasia, jansen type 10.1 FGFR3 PTH1R
34 apnea, obstructive sleep 10.1
35 spinal stenosis 10.1
36 chondromyxoid fibroma 10.0 FGFR3 PTH1R SOX9
37 acanthosis nigricans 10.0
38 osteochondrodysplasia 10.0 FGFR3 PTH1R SOX9
39 hydrocephalus 10.0
40 hypertropia 10.0 FGFR2 FGFR3
41 radioulnar synostosis 10.0 FGFR1 FGFR2
42 synovial chondromatosis 10.0 FGFR1 FGFR3 SOX9
43 cartilage disease 9.9 ACAN COMP
44 down syndrome 9.9
45 chondroblastoma 9.9 FGFR1 PTH1R SOX9
46 atelosteogenesis 9.9 COMP FGFR3
47 blood group, i system 9.9
48 pulmonary hypertension 9.9
49 plagiocephaly 9.9 FGFR1 FGFR2 FGFR3
50 osteoglophonic dysplasia 9.9 FGFR1 FGFR2 FGFR3
51 jackson-weiss syndrome 9.9 FGFR1 FGFR2 FGFR3
52 transient arthritis 9.9 ACAN COMP
53 apert syndrome 9.9 FGFR1 FGFR2 FGFR3
54 achondrogenesis, type ii 9.9 ACAN COMP
55 muenke syndrome 9.9 FGFR1 FGFR2 FGFR3
56 saethre-chotzen syndrome 9.9 FGFR1 FGFR2 FGFR3
57 endosteal hyperostosis, autosomal dominant 9.8
58 osteopetrosis 9.8
59 lung squamous cell carcinoma 9.8 FGFR1 FGFR2 FGFR3
60 neurofibromatosis, type iv, of riccardi 9.8
61 spondyloepiphyseal dysplasia congenita 9.8
62 hypochondrogenesis 9.8 ACAN COMP
63 tooth agenesis 9.8 FGF3 FGFR1 FGFR2
64 antley-bixler syndrome 9.8 FGFR1 FGFR2
65 coloboma of macula 9.7
66 macrocephaly/megalencephaly syndrome, autosomal recessive 9.7
67 brittle bone disorder 9.7
68 osteoarthritis with mild chondrodysplasia 9.7
69 body mass index quantitative trait locus 1 9.7
70 crouzon syndrome with acanthosis nigricans 9.7
71 achondrogenesis 9.7
72 lipomatosis 9.7
73 retinitis 9.7
74 pelvic lipomatosis 9.7
75 megalencephaly 9.7
76 bone deterioration disease 9.7 ACAN SOX9
77 lacrimoauriculodentodigital syndrome 9.7 FGF3 FGFR1 FGFR2 FGFR3
78 spondyloarthropathy 1 9.6
79 fundus albipunctatus 9.6
80 marfan syndrome 9.6
81 nail-patella syndrome 9.6
82 pelvic organ prolapse 9.6
83 teeth, supernumerary 9.6
84 tetralogy of fallot 9.6
85 thanatophoric dysplasia, type ii 9.6
86 trigeminal neuralgia 9.6
87 renal hypodysplasia/aplasia 1 9.6
88 neuroblastoma 9.6
89 body mass index quantitative trait locus 11 9.6
90 fragile x syndrome 9.6
91 muscular dystrophy, duchenne type 9.6
92 body mass index quantitative trait locus 9 9.6
93 body mass index quantitative trait locus 8 9.6
94 polydactyly 9.6
95 body mass index quantitative trait locus 4 9.6
96 body mass index quantitative trait locus 10 9.6
97 leukemia, chronic myeloid 9.6
98 body mass index quantitative trait locus 7 9.6
99 choanal atresia, posterior 9.6
100 body mass index quantitative trait locus 12 9.6
101 body mass index quantitative trait locus 14 9.6
102 episodic pain syndrome, familial, 1 9.6
103 hydrocephalus, nonsyndromic, autosomal recessive 2 9.6
104 body mass index quantitative trait locus 18 9.6
105 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.6
106 cohen-gibson syndrome 9.6
107 keratoconus 9.6
108 leukemia 9.6
109 spinal cord injury 9.6
110 thrombocytopenia 9.6
111 scoliosis 9.6
112 ciliopathy 9.6
113 mucositis 9.6
114 respiratory failure 9.6
115 inflammatory spondylopathy 9.6
116 arachnoiditis 9.6
117 duane retraction syndrome 9.6
118 multiple epiphyseal dysplasia 9.6
119 renal osteodystrophy 9.6
120 biliary atresia 9.6
121 gonadal dysgenesis 9.6
122 papilledema 9.6
123 ventricular septal defect 9.6
124 spondylosis 9.6
125 pharyngitis 9.6
126 auditory system disease 9.6
127 syringomyelia 9.6
128 periodontal disease 9.6
129 middle ear disease 9.6
130 spondylitis 9.6
131 periodontitis 9.6
132 polyhydramnios 9.6
133 myeloid leukemia 9.6
134 chorioretinitis 9.6
135 muscular dystrophy 9.6
136 47, xxy 9.6
137 arachnoid cysts 9.6
138 chiari malformation 9.6
139 isolated duane retraction syndrome 9.6
140 hemifacial spasm 9.6
141 hypotonia 9.6
142 infantile hypotonia 9.6
143 renal agenesis, unilateral 9.6
144 bone development disease 8.6 COMP FGFR1 FGFR2 FGFR3 SHOX SOX9

Graphical network of the top 20 diseases related to Achondroplasia:



Diseases related to Achondroplasia

Symptoms & Phenotypes for Achondroplasia

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Head:
frontal bossing
megalencephaly

Respiratory Airways:
upper airway obstruction

Skeletal:
generalized joint laxity

Growth Height:
short-limb dwarfism identifiable at birth
mean male adult height, 131 cm
mean female height, 124 cm

Head And Neck Ears:
recurrent otitis media in infancy and childhood
conductive hearing loss

Skeletal Skull:
jugular bulb dehiscence (in some patients)
foramen magnum stenosis

Skeletal Pelvis:
dysplastic ilium
narrow sacroiliac groove
flat rooted acetabulae

Skeletal Hands:
brachydactyly
trident hand

Neurologic Central Nervous System:
brain stem compression
hydrocephalus, occasional
hypotonia in infancy and early childhood
delayed motor development

Skeletal Limbs:
short femoral neck
bowing of legs
rhizomelic shortening
metaphyseal flaring
limited elbow and hip extension

Head And Neck Face:
midface hypoplasia

Head And Neck Nose:
low nasal bridge

Skeletal Spine:
lumbar kyphosis in infancy
exaggerated lumbar lordosis during childhood and adulthood
congenital spinal stenosis due to short pedicles, especially lumbar
progressive interpediculate narrowing in lumbar spine


Clinical features from OMIM:

100800

Human phenotypes related to Achondroplasia:

55 31 (showing 61, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 55 31 occasional (7.5%) Occasional (29-5%) HP:0001387
2 macrocephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000256
3 obesity 55 31 frequent (33%) Frequent (79-30%) HP:0001513
4 frontal bossing 55 31 hallmark (90%) Very frequent (99-80%) HP:0002007
5 hydrocephalus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000238
6 hyperhidrosis 55 31 frequent (33%) Frequent (79-30%) HP:0000975
7 muscular hypotonia 55 31 frequent (33%) Frequent (79-30%) HP:0001252
8 dysarthria 55 31 occasional (7.5%) Occasional (29-5%) HP:0001260
9 sudden cardiac death 55 31 occasional (7.5%) Occasional (29-5%) HP:0001645
10 kyphosis 55 31 frequent (33%) Frequent (79-30%) HP:0002808
11 hyperlordosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0003307
12 chronic otitis media 55 31 hallmark (90%) Very frequent (99-80%) HP:0000389
13 dental malocclusion 55 31 frequent (33%) Frequent (79-30%) HP:0000689
14 depressed nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0005280
15 anteverted nares 55 31 hallmark (90%) Very frequent (99-80%) HP:0000463
16 acanthosis nigricans 55 31 occasional (7.5%) Occasional (29-5%) HP:0000956
17 abnormality of the metaphysis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000944
18 narrow chest 55 31 frequent (33%) Frequent (79-30%) HP:0000774
19 joint hyperflexibility 55 31 frequent (33%) Frequent (79-30%) HP:0005692
20 wormian bones 55 31 hallmark (90%) Very frequent (99-80%) HP:0002645
21 abnormal form of the vertebral bodies 55 31 frequent (33%) Frequent (79-30%) HP:0003312
22 diaphyseal thickening 55 31 frequent (33%) Frequent (79-30%) HP:0005019
23 intrauterine growth retardation 55 31 frequent (33%) Frequent (79-30%) HP:0001511
24 ventriculomegaly 55 31 frequent (33%) Frequent (79-30%) HP:0002119
25 rhizomelia 55 31 hallmark (90%) Very frequent (99-80%) HP:0008905
26 dental crowding 55 31 frequent (33%) Frequent (79-30%) HP:0000678
27 conductive hearing impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000405
28 elbow dislocation 55 31 occasional (7.5%) Occasional (29-5%) HP:0003042
29 genu varum 55 31 hallmark (90%) Very frequent (99-80%) HP:0002970
30 abnormality of the ribs 55 31 hallmark (90%) Very frequent (99-80%) HP:0000772
31 spinal canal stenosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0003416
32 obstructive sleep apnea 55 31 frequent (33%) Frequent (79-30%) HP:0002870
33 narrow sacroiliac notch 55 31 frequent (33%) Frequent (79-30%) HP:0008803
34 neonatal short-limb short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0008921
35 midface retrusion 55 31 frequent (33%) Frequent (79-30%) HP:0011800
36 long thorax 55 31 frequent (33%) Frequent (79-30%) HP:0100818
37 malar flattening 31 HP:0000272
38 megalencephaly 31 HP:0001355
39 neurological speech impairment 55 Occasional (29-5%)
40 bowing of the long bones 55 Frequent (79-30%)
41 death in infancy 55 Occasional (29-5%)
42 recurrent otitis media 31 HP:0000403
43 apnea 55 Frequent (79-30%)
44 brachydactyly 31 HP:0001156
45 abnormality of the ilium 55 Frequent (79-30%)
46 disproportionate short-limb short stature 55 Very frequent (99-80%)
47 abnormality of the elbow 55 Frequent (79-30%)
48 motor delay 31 HP:0001270
49 upper airway obstruction 31 HP:0002781
50 lumbar hyperlordosis 31 HP:0002938
51 limited elbow extension 31 HP:0001377
52 brain stem compression 31 HP:0002512
53 generalized joint laxity 31 HP:0002761
54 short femoral neck 31 HP:0100864
55 flared metaphysis 31 HP:0003015
56 infantile muscular hypotonia 31 HP:0008947
57 lumbar kyphosis in infancy 31 HP:0008414
58 trident hand 31 HP:0004060
59 small foramen magnum 31 HP:0002677
60 limited hip extension 31 HP:0003093
61 spinal stenosis with reduced interpedicular distance 31 HP:0005733

MGI Mouse Phenotypes related to Achondroplasia:

43 (showing 11, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.09 PTH1R SOX9 NPPC FGFR1 MAP2K1 FGFR2
2 craniofacial MP:0005382 10.04 PTH1R SOX9 NPPC MAP2K1 FGFR2 FGFR3
3 limbs/digits/tail MP:0005371 9.97 PTH1R SOX9 FGFR2 NPPC COMP FGF3
4 digestive/alimentary MP:0005381 9.95 PTH1R SOX9 FGFR1 MAP2K1 FGFR2 FGFR3
5 embryo MP:0005380 9.93 PTH1R SOX9 FGFR1 MAP2K1 FGFR2 FGF3
6 nervous system MP:0003631 9.92 NPPC PTH1R SOX9 FGFR1 MAP2K1 FGFR2
7 hearing/vestibular/ear MP:0005377 9.88 SOX9 MAP2K1 FGFR2 FGF3 FGFR3 FGFR1
8 normal MP:0002873 9.8 SOX9 FGFR1 MAP2K1 FGFR2 COMP FGF3
9 reproductive system MP:0005389 9.7 NPPC SOX9 FGFR1 MAP2K1 FGFR2 FGF3
10 skeleton MP:0005390 9.61 PTH1R SOX9 MAP2K1 FGFR2 NPPC COMP
11 vision/eye MP:0005391 9.1 PTH1R SOX9 FGFR1 MAP2K1 FGFR2 FGFR3

Drugs & Therapeutics for Achondroplasia

Drugs for Achondroplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 2, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Natriuretic Agents Phase 3,Phase 2
2 Natriuretic Peptide, C-Type Phase 3,Phase 2

Interventional clinical trials:

(showing 14, show less)

# Name Status NCT ID Phase Drugs
1 An Extension Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia Enrolling by invitation NCT03424018 Phase 3 BMN 111
2 A Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia Enrolling by invitation NCT03197766 Phase 3 BMN 111;Placebo
3 A Phase 2 Study of BMN 111 to Evaluate Safety, Tolerability, and Efficacy in Children With Achondroplasia Completed NCT02055157 Phase 2 BMN 111
4 A Study to Evaluate Long-Term Safety, Tolerability, & Efficacy of BMN 111 in Children With Achondroplasia (ACH) Active, not recruiting NCT02724228 Phase 2 BMN 111
5 A Study to Evaluate Safety and Tolerability of BMN 111 Administered to Healthy Adult Volunteers Completed NCT01590446 Phase 1 BMN 111;Normal Saline
6 C-Type Natriuretic Peptide and Achondroplasia Completed NCT01541306
7 A Survey Collecting Data on Adult Height in Patients With Achondroplasia Treated With Somatropin Completed NCT01435629 somatropin
8 Issues Surrounding Prenatal Genetic Testing for Achondroplasia Completed NCT00001536
9 Special Survey for Long Term Application Completed NCT01516229 somatropin
10 Simultaneous Lengthening of Bilateral Femora and Tibiae in Achondroplastic Patients Completed NCT01328418
11 Study of Skeletal Disorders and Short Stature Completed NCT00001754
12 Lifetime Impact of Achondroplasia Study in Europe-LIAISE Recruiting NCT03449368
13 Achondroplasia Natural History Multicenter Clinical Study Enrolling by invitation NCT02597881
14 A Multicenter, Multinational Clinical Assessment Study for Pediatric Patients With Achondroplasia Enrolling by invitation NCT01603095

Search NIH Clinical Center for Achondroplasia

Cochrane evidence based reviews: achondroplasia

Genetic Tests for Achondroplasia

Genetic tests related to Achondroplasia:

# Genetic test Affiliating Genes
1 Achondroplasia 28 FGFR3

Anatomical Context for Achondroplasia

MalaCards organs/tissues related to Achondroplasia:

38
Bone, Brain, Spinal Cord, Lung, Testes, Bone Marrow, Occipital Lobe

The Foundational Model of Anatomy Ontology organs/tissues related to Achondroplasia:

18
Long Bone

Publications for Achondroplasia

Articles related to Achondroplasia:

(showing 653, show less)
# Title Authors Year
1
Skeletal Characterization of the Fgfr3 Mouse Model of Achondroplasia Using Micro-CT and MRI Volumetric Imaging. ( 29323153 )
2018
2
Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies. ( 29360984 )
2018
3
The Efficacy of Brace Treatment for Thoracolumbar Kyphosis in Patients with Achondroplasia. ( 29419717 )
2018
4
Constitutively-active FGFR3 disrupts primary cilium length and IFT20 trafficking in various chondrocyte models of achondroplasia. ( 29040558 )
2018
5
Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with<i>FGFR3-</i>Related Skeletal Dysplasias. ( 29170271 )
2018
6
Optimal non-invasive diagnosis of fetal achondroplasia combining ultrasonography and circulating cell-free fetal DNA analysis. ( 29380944 )
2018
7
Leg length, sitting height, and body proportions references for achondroplasia: New tools for monitoring growth. ( 29424094 )
2018
8
Identification and in silico characterization of p.G380R substitution in FGFR3, associated with achondroplasia in a non-consanguineous Pakistani family. ( 28679403 )
2017
9
Sleep disordered breathing in children with achondroplasia. ( 27830579 )
2017
10
Coincidental Finding of Twin Dentigerous Cyst in an Achondroplasia Patient. ( 28893057 )
2017
11
PTH 1-34 Ameliorates the Osteopenia and Delayed Healing of Stabilized Tibia Fracture in Mice with Achondroplasia Resulting from Gain-Of-Function Mutation of FGFR3. ( 29104492 )
2017
12
Growth charts for Australian children with achondroplasia. ( 28599087 )
2017
13
Humeral lengthening in patients with achondroplasia and in patients with post-septic shortening: comparison of procedure efficiency and safety. ( 28889181 )
2017
14
Achondroplasia with multiple supplemental supernumerary teeth and multiple talon cusps: A rare case report. ( 28702065 )
2017
15
Specific force of the vastus lateralis in adults with Achondroplasia. ( 29146686 )
2017
16
Circulatory CNP Rescues Craniofacial Hypoplasia in Achondroplasia. ( 28644737 )
2017
17
Sinus pericranii in achondroplasia: a case report and review of the literature. ( 28872565 )
2017
18
Long-term follow-up of a patient with achondroplasia treated with an orthodontic approach. ( 28364903 )
2017
19
Subcranial and orthognathic surgery for obstructive sleep apnea in achondroplasia. ( 29108917 )
2017
20
Myxoedema in a patient with achondroplasia in rural area of Guatemala. ( 28280081 )
2017
21
Successful Delivery in a Woman With Achondroplasia: A Case Report. ( 29034653 )
2017
22
Understanding, Assessing and Improving Health-Related Quality of Life of Young People with Achondroplasia- A Collaboration between a Patient Organization and Academic Medicine. ( 29292874 )
2017
23
Current Care and Investigational Therapies in Achondroplasia. ( 28224446 )
2017
24
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation. ( 28181399 )
2017
25
The prevalence of the complications and their associated factors in humeral lengthening for achondroplasia: retrospective study of 54 cases. ( 28107267 )
2017
26
Anesthesia for Pulmonary Endarterectomy and Extracorporeal Membrane Oxygenation in a Patient With Achondroplasia. ( 28502457 )
2017
27
Quantitative approach to the posterior cranial fossa and craniocervical junction in asymptomatic children with achondroplasia. ( 28819680 )
2017
28
Two-staged Bilateral, Femoral Alignment Osteotomy with Concomitant Total Knee Arthroplasty in an Achondroplasia Patient - A Case Report. ( 28819598 )
2017
29
Activated FGFR3 prevents subchondral bone sclerosis during the development of osteoarthritis in transgenic mice with achondroplasia. ( 28520086 )
2017
30
Occult Spinal Cord Injury after Blunt Force Trauma in a Patient with Achondroplasia: A Case Report and Review of Trauma Management Strategy. ( 29079071 )
2017
31
A height-for-age growth reference for children with achondroplasia: Expanded applications and comparison with original reference data. ( 28374958 )
2017
32
Reverse shoulder arthroplasty in young patient with achondroplasia - Ten year follow up: Case report. ( 28827054 )
2017
33
Avascular Retinal Findings in a Child With Achondroplasia. ( 28297043 )
2017
34
Clinical dosage of meclozine promotes longitudinal bone growth, bone volume, and trabecular bone quality in transgenic mice with achondroplasia. ( 28785080 )
2017
35
Spondylectomy and lateral lumbar interbody fusion for thoracolumbar kyphosis in an adult with achondroplasia: A case report. ( 29245270 )
2017
36
Knock-in human FGFR3 achondroplasia mutation as a mouse model for human skeletal dysplasia. ( 28230213 )
2017
37
Achondroplasia and Biliary Atresia: A Rare Association and Review of Literature. ( 28497003 )
2017
38
Maternal administration of meclozine for the treatment of foramen magnum stenosis in transgenic mice with achondroplasia. ( 27767902 )
2017
39
Final adult height in long-term growth hormone-treated achondroplasia patients. ( 28501952 )
2017
40
Successful obstetric and anaesthetic management of a pregnant woman with achondroplasia. ( 29070618 )
2017
41
Achondroplasia: Etiology, Clinical Presentation, and Management. ( 29185944 )
2017
42
HDAC6 deficiency or inhibition blocks FGFR3 accumulation and improves bone growth in a model of achondroplasia. ( 28911208 )
2017
43
Long-term follow-up of a child with Klinefelter syndrome and achondroplasia from infancy to 16 years. ( 28693116 )
2017
44
Arthroscopic knee anatomy in young achondroplasia patients. ( 28828058 )
2017
45
Leadless pacemaker implantation in achondroplastic dwarfism and recurrent cardiac implantable electronic device infections: a case report. ( 29300871 )
2017
46
Long-term follow-up of a child with Klinefelter syndrome and achondroplasia from infancy to 16 years. ( 28672740 )
2017
47
Achondroplasia in the Premature Infant: An Elusive Diagnosis in the Neonatal Intensive Care Unit. ( 28210519 )
2017
48
Growth Modulation in Achondroplasia. ( 28719547 )
2017
49
Bilateral simultaneous total hip replacement in Achondroplasia. ( 28878547 )
2017
50
Sleep-disordered breathing and its management in children with achondroplasia. ( 28239978 )
2017
51
Achondroplasia with Polydactyly: A Case Report. ( 28511523 )
2017
52
C-Type Natriuretic Peptide Analog as Therapy for Achondroplasia. ( 26684019 )
2016
53
Chemotherapy dosing in achondroplastic dwarfism: a case report and review of literature. ( 27709641 )
2016
54
Discoid Meniscus Associated With Achondroplasia. ( 27135452 )
2016
55
Achondroplasia: Really rhizomelic? ( 27257098 )
2016
56
The neuropsychological function of children with achondroplasia. ( 27605460 )
2016
57
Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia. ( 26850935 )
2016
58
Alternative technique in atypical spinal decompression: the use of the ultrasonic scalpel in paediatric achondroplasia. ( 27288205 )
2016
59
Height Outcome of Recombinant Human Growth Hormone Treatment in Achondroplasia Children: A Meta-Analysis. ( 27355624 )
2016
60
Serum NT-proCNP levels increased after initiation of GH treatment in patients with achondroplasia/hypochondroplasia. ( 26814021 )
2016
61
Ventricular septal defect closure in a patient with achondroplasia. ( 27323297 )
2016
62
Prevalence of Scoliosis and Thoracolumbar Kyphosis in Patients With Achondroplasia. ( 27927547 )
2016
63
Response: "Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy" and "is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?". ( 26754314 )
2016
64
Achondroplasia. ( 27387628 )
2016
65
An ICF-CY-based approach to assessing self- and observer-reported functioning in young persons with achondroplasia - development of the pilot version of the Achondroplasia Personal Life Experience Scale (APLES). ( 27636099 )
2016
66
Functional characteristics of mesenchymal stem cells derived from the adipose tissue of a patient with achondroplasia. ( 27059327 )
2016
67
HDAC6 deficiency or inhibition blocks FGFR3 accumulation and improves bone growth in a model of achondroplasia. ( 27506979 )
2016
68
Letter to the editor: Response to two recent articles regarding achondroplasia. ( 26753848 )
2016
69
FGFR3 gene mutation plus GRB10 gene duplication in a patient with achondroplasia plus growth delay with prenatal onset. ( 27370225 )
2016
70
A novel non-invasive detection method for the FGFR3 gene mutation in maternal plasma for a fetal achondroplasia diagnosis based on signal amplification by hemin-MOFs/PtNPs. ( 27836589 )
2016
71
Cervicomedullary junction compression in infant with achondroplasia. ( 26944588 )
2016
72
Arthroscopic Treatment of Discoid Lateral Meniscus Tears in Children With Achondroplasia. ( 27276636 )
2016
73
Cognitive phenotype and language skills in children with achondroplasia. ( 26899672 )
2016
74
The natural history of thoracolumbar kyphosis in achondroplasia. ( 28005181 )
2016
75
Multilevel thoracic ossification of the ligamentum flavum in a Hispanic woman with achondroplasia. ( 27140867 )
2016
76
Identifying spinal cord compression in achondroplasia - the role of somatosensory evoked potentials and the need for screening. ( 27651125 )
2016
77
Favorable Growth Hormone Treatment Response in a Young Boy with Achondroplasia. ( 27147792 )
2016
78
Meckel's and condylar cartilages anomalies in achondroplasia result in defective development and growth of the mandible. ( 27260401 )
2016
79
Walking Out of the Curve: Thoracolumbar Kyphosis in Achondroplasia. ( 27636912 )
2016
80
Early impairment of somatosensory evoked potentials in very young children with achondroplasia with foramen magnum stenosis. ( 27633930 )
2016
81
Achondroplasia: Development, Pathogenesis, and Therapy. ( 27987249 )
2016
82
Abnormal pelvic morphology and high cervical length are responsible for high-risk pregnancies in women displaying achondroplasia. ( 27919255 )
2016
83
Retracted: Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome. ( 27239358 )
2016
84
Effect of the achondroplasia mutation on FGFR3 dimerization and FGFR3 structural response to fgf1 and fgf2: A quantitative FRET study in osmotically derived plasma membrane vesicles. ( 27040652 )
2016
85
A novel mutation p.Ser348Cys in FGFR3 causes achondroplasia. ( 26754866 )
2016
86
Limb lengthening in achondroplasia. ( 27512222 )
2016
87
Meclozine promotes longitudinal skeletal growth in transgenic mice with achondroplasia carrying a gain-of-function mutation in the FGFR3 gene. ( 25456072 )
2015
88
Achondroplasia: Current Options and Future Perspective. ( 26182483 )
2015
89
Limb Lengthening in Patients with Achondroplasia. ( 26446651 )
2015
90
A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly. ( 26126848 )
2015
91
Achondroplasia and Macular Coloboma. ( 26692730 )
2015
92
Bilateral humeral lengthening in achondroplasia with unilateral external fixators: is it safe and does it improve daily life? ( 26530664 )
2015
93
Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition? ( 25691418 )
2015
94
Lateral retroperitoneal transpsoas interbody fusion in a patient with achondroplastic dwarfism. ( 25415482 )
2015
95
Achondroplasia and multiple-suture craniosynostosis. ( 25502720 )
2015
96
Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next generation sequencing allows for a safer, more accurate and comprehensive approach. ( 25728633 )
2015
97
Low Prevalence of Anterior and Posterior Cruciate Ligament Injuries in Patients With Achondroplasia. ( 26469688 )
2015
98
Widening of the femoral diaphysis-metaphysis angle at 20-24 weeks: a marker for the detection of achondroplasia prior to the onset of skeletal shortening. ( 26450406 )
2015
99
Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy. ( 26394886 )
2015
100
Achondroplasia and limb lengthening: Results in a UK cohort and review of the literature. ( 25829758 )
2015
101
Prenatal diagnosis of concurrent achondroplasia and klinefelter syndrome. ( 25789188 )
2015
102
The Tibial Slope in Patients With Achondroplasia: Its Characterization and Possible Role in Genu Recurvatum Development. ( 26114241 )
2015
103
Whole-exome sequencing and whole genome re-sequencing for prenatal diagnosis of achondroplasia. ( 26770560 )
2015
104
Low bone mineral density in achondroplasia and hypochondroplasia. ( 26716907 )
2015
105
Surgical treatment for cervicomedullary compression among infants with achondroplasia. ( 25686888 )
2015
106
Is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia? ( 26394798 )
2015
107
FGFR3/Fibroblast Growth Factor Receptor 3 Inhibits Autophagy through Decreasing the ATG12-ATG5 Conjugate, Leading to the Delay of Cartilage Development in Achondroplasia. ( 26491898 )
2015
108
Sleep disordered breathing in a cohort of children with achondroplasia: correlation between clinical and instrumental findings. ( 26041006 )
2015
109
Analysis of the clinical and molecular characteristics of a child with achondroplasia: A case report. ( 26136890 )
2015
110
Advances in treatment of achondroplasia and osteoarthritis. ( 26443596 )
2015
111
Widening of the femoral proximal diaphysis--metaphysis angle in fetuses with achondroplasia. ( 24623391 )
2014
112
Achondroplasia: anaesthetic challenges for caesarean section. ( 24768304 )
2014
113
Optimal management of complications associated with achondroplasia. ( 25053890 )
2014
114
Neurologic manifestations of achondroplasia. ( 24365319 )
2014
115
Diffusion tensor imaging of the brainstem in children with achondroplasia. ( 24825324 )
2014
116
C-type natriuretic peptide (CNP) plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia. ( 25387261 )
2014
117
Acute paraparesis as consequence of lumbar bending in achondroplasia. ( 23842926 )
2014
118
Achondroplasia and brain stem dysfunction. ( 25040780 )
2014
119
Association of achondroplasia with Down syndrome: difficulty in prenatal diagnosis by sonographic and 3-D helical computed tomographic analyses. ( 25385298 )
2014
120
Concomitant achondroplasia and Chiari II malformation: A double-hit at the cervicomedullary junction. ( 25405196 )
2014
121
Airway malacia in children with achondroplasia. ( 24311312 )
2014
122
Congenital lumbar spinal stenosis with ossification of the ligamentum flavum in achondroplasia: a case report. ( 24597928 )
2014
123
FGFR3 mutation causes abnormal membranous ossification in achondroplasia. ( 24419316 )
2014
124
Low bone density in achondroplasia. ( 24664201 )
2014
125
Magnetic resonance evaluation of the knee in children and adolescents with achondroplasia. ( 25432442 )
2014
126
Mortality in babies with achondroplasia: revisited. ( 24677650 )
2014
127
Achondroplasia in children: correlation of ventriculomegaly, size of foramen magnum and jugular foramina, and emissary vein enlargement. ( 25249421 )
2014
128
Early and late fracture following extensive limb lengthening in patients with achondroplasia and hypochondroplasia. ( 25183602 )
2014
129
Psychosocial profiles of children with achondroplasia in terms of their short stature-related stress: a nationwide survey in Japan. ( 25453127 )
2014
130
Impact of three genetic musculoskeletal diseases: a comparative synthesis of achondroplasia, Duchenne muscular dystrophy and osteogenesis imperfecta. ( 25649344 )
2014
131
Prenatal ultrasound and MRI findings of temporal and occipital lobe dysplasia in a twin with achondroplasia. ( 24616001 )
2014
132
Recurrent acute life-threatening events in a child with achondroplasia. ( 25368135 )
2014
133
Suppression of severe achondroplasia with developmental delay and acanthosis nigricans by the p.Thr651Pro mutation. ( 24352917 )
2014
134
Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia: review of an 11-year surgical case series. ( 24971605 )
2014
135
Intraoperative computed tomography for cervicomedullary decompression of foramen magnum stenosis in achondroplasia: two case reports. ( 24140778 )
2013
136
Height correlations between parents and offspring in achondroplasia population. ( 23322679 )
2013
137
Small is challenging; distal femur fracture management in an elderly lady with achondroplastic dwarfism. ( 23519511 )
2013
138
The effect of height, weight and head circumference on gross motor development in achondroplasia. ( 23336715 )
2013
139
A rare case of percutaneous coronary intervention in achondroplasia. ( 23735369 )
2013
140
How reliable are standard radiographic measures of the foot and ankle in children with achondroplasia? ( 23609814 )
2013
141
Respiratory difficulties and breathing disorders in achondroplasia. ( 23523391 )
2013
142
Ultrasound-guided combined spinal-epidural anaesthesia for elective caesarean section in a patient with achondroplasia. ( 23473550 )
2013
143
Achondroplasia with multiple-suture craniosynostosis: a report of a new case of this rare association. ( 23949953 )
2013
144
Anaesthesia and orphan disease: a 26-year-old patient with achondroplasia. ( 24161935 )
2013
145
Treatment of varus deformities of the lower limbs in patients with achondroplasia and hypochondroplasia. ( 23459260 )
2013
146
Postnatal soluble FGFR3 therapy rescues achondroplasia symptoms and restores bone growth in mice. ( 24048522 )
2013
147
New evidence for positive selection helps explain the paternal age effect observed in achondroplasia. ( 23740942 )
2013
148
Increased sacral uptake on a bone scan with SPECT/CT in a patient with achondroplasia: normal or abnormal? ( 23868929 )
2013
149
Meclozine Facilitates Proliferation and Differentiation of Chondrocytes by Attenuating Abnormally Activated FGFR3 Signaling in Achondroplasia. ( 24324705 )
2013
150
Bilateral ossiculoplasty in 1 case of achondroplasia. ( 24653923 )
2013
151
Achondroplasia with oligodontia: Report of a rare case. ( 24574672 )
2013
152
Evaluation of the therapeutic potential of a CNP analog in a Fgfr3 mouse model recapitulating achondroplasia. ( 23200862 )
2012
153
Direct assessment of the effect of the Gly380Arg achondroplasia mutation on FGFR3 dimerization using quantitative imaging FRET. ( 23056398 )
2012
154
Surgical decompression of thoracic spinal stenosis in achondroplasia: indication and outcome. ( 22724572 )
2012
155
The prevalence of thoracolumbar kyphosis in achondroplasia: a systematic review. ( 22442656 )
2012
156
Growth disturbance after lengthening of the lower limb and quantitative assessment of physeal closure in skeletally immature patients with achondroplasia. ( 22434475 )
2012
157
Helping parents of children with monogenetic disorders understand developmental trajectories: lessons from achondroplasia. ( 22409722 )
2012
158
Achondroplasia and periodontal disease. ( 22628982 )
2012
159
Lung function, diagnosis, and treatment of sleep-disordered breathing in children with achondroplasia. ( 22711495 )
2012
160
Achondroplasia associated with bilateral keratoconus. ( 23259098 )
2012
161
Cervical high-intensity intramedullary lesions in achondroplasia: aetiology, prevalence and clinical relevance. ( 22638916 )
2012
162
Intermittent PTH (1-34) injection rescues the retarded skeletal development and postnatal lethality of mice mimicking human achondroplasia and thanatophoric dysplasia. ( 22634226 )
2012
163
Sagittal spinopelvic parameters in children with achondroplasia: identification of 2 distinct groups. ( 22540171 )
2012
164
Development in children with achondroplasia: a prospective clinical cohort study. ( 22409389 )
2012
165
Rapid detection of G1138A and G1138C mutations of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis. ( 22339077 )
2012
166
Comparison between upper and lower limb lengthening in patients with achondroplasia: a retrospective study. ( 22219260 )
2012
167
Endoscopic third ventriculostomy in hydrocephalus associated with achondroplasia. ( 22208325 )
2012
168
Medical management of children with achondroplasia: evaluation of an Australasian cohort aged 0-5 years. ( 22112170 )
2012
169
De novo achondroplasia causing four consecutive unsuccessful pregnancies: a case report. ( 22935513 )
2012
170
Clinical management of achondroplasia. ( 21460402 )
2012
171
Lower limb lengthening in patients with disproportionate short stature with achondroplasia: a systematic review of the last 20 years. ( 22112021 )
2012
172
Effect of the G375C and G346E achondroplasia mutations on FGFR3 activation. ( 22529939 )
2012
173
Is bilateral lower limb lengthening appropriate for achondroplasia?: midterm analysis of the complications and quality of life. ( 21785895 )
2012
174
Physeal growth arrest after tibial lengthening in achondroplasia: 23 children followed to skeletal maturity. ( 22489887 )
2012
175
FGFR3 targeting strategies for achondroplasia. ( 22559284 )
2012
176
Achondroplasia with 47, XXY karyotype: a case report of the neonatal diagnosis of an extremely unusual association. ( 22747519 )
2012
177
Achondroplasia-hypochondroplasia complex and abnormal pulmonary anatomy. ( 22888019 )
2012
178
Atypical achondroplasia due to somatic mosaicism for the common thanatophoric dysplasia mutation R248C. ( 22106050 )
2012
179
Achondroplasia with synostosis of multiple sutures. ( 21739570 )
2011
180
New aids for the non-invasive prenatal diagnosis of achondroplasia: dysmorphic features, charts of fetal size and molecular confirmation using cell-free fetal DNA in maternal plasma. ( 21105021 )
2011
181
Unilateral frontosphenoidal craniosynostosis with achondroplasia: a case report. ( 20839967 )
2011
182
Magnetic resonance imaging study determining cord level and occupancy at thoracolumbar junction in achondroplasia - A prospective study. ( 21221226 )
2011
183
Growth references for height, weight, and head circumference for Argentine children with achondroplasia. ( 20938683 )
2011
184
Non-invasive prenatal detection of achondroplasia using circulating fetal DNA in maternal plasma. ( 20963478 )
2011
185
Analysis of sagittal spinopelvic parameters in achondroplasia. ( 21358483 )
2011
186
Achondroplasia in female twins: surgical indications. ( 21088624 )
2011
187
The role of arthrography in selecting an osteotomy for the correction of genu varum in pediatric patients with achondroplasia. ( 20948449 )
2011
188
Functional performance in young Australian children with achondroplasia. ( 21838822 )
2011
189
Laminectomy in patients with achondroplasia: the impact of time to surgery on long-term function. ( 20739914 )
2011
190
Personalized medicine and the importance of measuring functioning and participation over time: lessons from achondroplasia. ( 21838817 )
2011
191
Safety of spinal anesthesia in a patient with achondroplasia for cesarean section. ( 21375478 )
2011
192
Diagnostics and management of sleep-related respiratory disturbances in children with skeletal dysplasia caused by FGFR3 mutations (achondroplasia and hypochondroplasia). ( 21873755 )
2011
193
Respiratory events and obstructive sleep apnea in children with achondroplasia: investigation and treatment outcomes. ( 21225355 )
2011
194
FGFR3 heterodimerization in achondroplasia, the most common form of human dwarfism. ( 21324899 )
2011
195
Achondroplasia: pathogenesis and implications for future treatment. ( 20601886 )
2010
196
Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia. ( 20034074 )
2010
197
Intraoperative airway obstruction related to tracheostomy tube malposition in a patient with achondroplasia and Jeune's syndrome. ( 20803866 )
2010
198
Physical basis behind achondroplasia, the most common form of human dwarfism. ( 20624921 )
2010
199
Delayed bone age due to a dual effect of FGFR3 mutation in Achondroplasia. ( 20673820 )
2010
200
Co-occurrence of achondroplasia and Down syndrome: Genotype/phenotype association. ( 20222028 )
2010
201
Anaesthetic challenges associated with achondroplasia: a case report. ( 21243927 )
2010
202
Achondroplasia: Craniofacial manifestations and considerations in dental management. ( 24151409 )
2010
203
Fibroblast growth receptor-3 (FGFR3) G375C mutation in a case of achondroplasia and thanatophoric dysplasia phenotypic overlap. ( 20357663 )
2010
204
Usefulness of phase contrast cine mode magnetic resonance imaging for surgical decision making in patients with hydrocephalus combined with achondroplasia. Case report. ( 21206191 )
2010
205
Surgical decompression for lumbar stenosis in pediatric achondroplasia. ( 20574261 )
2010
206
Callus features of regenerate fracture cases in femoral lengthening in achondroplasia. ( 19572129 )
2010
207
[Cytokines in bone diseases. FGF receptor signaling and achondroplasia/hypochondroplasia]. ( 20890030 )
2010
208
Analysis of callus pattern of tibia lengthening in achondroplasia and a novel method of regeneration assessment using pixel values. ( 19418051 )
2010
209
Progression of low back and lower extremity pain in a cohort of patients with achondroplasia. ( 20809726 )
2010
210
A new association or coincidence: achondroplasia and unilateral renal agenesis. ( 21290977 )
2010
211
A case of chorioretinal coloboma in a patient with achondroplasia. ( 21052511 )
2010
212
Bone: FGFR3 mutation delays bone age in achondroplasia. ( 21038504 )
2010
213
Developmental milestones in infants and young Australasian children with achondroplasia. ( 20081435 )
2010
214
Surgical management of pelvic organ prolapse in a woman with achondroplasia. ( 20664444 )
2010
215
Coronary artery surgery in a man with achondroplasia: a case report. ( 21034450 )
2010
216
[Updated treatment of achondroplasia]. ( 19252254 )
2009
217
Lumbar fusion in achondroplasia: does fusion to the sacrum affect function? ( 19568020 )
2009
218
Factors related to progression of thoracolumbar kyphosis in children with achondroplasia: a retrospective cohort study of forty-eight children treated in a comprehensive orthopaedic center. ( 19770611 )
2009
219
Deceleration in maturation of bone during adolescent age in achondroplasia--a retrospective study using RUS scoring system. ( 18629458 )
2009
220
Achondroplasia: manifestations and treatment. ( 19307672 )
2009
221
Neurosurgical implications of achondroplasia. ( 19795959 )
2009
222
Editorial. Achondroplasia. ( 19795958 )
2009
223
Sleep-related respiratory abnormalities and arousal pattern in achondroplasia during early infancy. ( 19608200 )
2009
224
Femoral lengthening in achondroplasia: magnitude of lengthening in relation to patterns of callus, stiffness of adjacent joints and fracture. ( 19949126 )
2009
225
Prenatal diagnosis of achondroplasia: new specific signs. ( 19399756 )
2009
226
In brief: Achondroplasia. ( 19255125 )
2009
227
Mutation analysis in Indian children with achondroplasia - utility of molecular diagnosis. ( 19330302 )
2009
228
Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutations. ( 19622626 )
2009
229
Molecular studies of achondroplasia. ( 19838370 )
2009
230
Os odontoideum in achondroplasia: a case report. ( 18510168 )
2008
231
Genotyping of the G1138A mutation of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis. ( 18199430 )
2008
232
Achondroplasia manifesting as enchondromatosis and ossification of the spinal ligaments: a case report. ( 18694487 )
2008
233
Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs. ( 18266238 )
2008
234
Subcortical somatosensory evoked potentials after median nerve and posterior tibial nerve stimulation in high cervical cord compression of achondroplasia. ( 18597963 )
2008
235
Achondroplasia. ( 18328977 )
2008
236
Rates of perioperative complications associated with laminectomies in patients with achondroplasia. ( 18245588 )
2008
237
Pulmonary hypertension in an infant with achondroplasia. ( 18552519 )
2008
238
Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation. ( 18076102 )
2008
239
Sprouty 2 disturbs FGFR3 degradation in thanatophoric dysplasia type II: a severe form of human achondroplasia. ( 18485666 )
2008
240
Increased achondroplasia mutation frequency with advanced age and evidence for G1138A mosaicism in human testis biopsies. ( 17706214 )
2008
241
Achondroplasia. ( 18590403 )
2008
242
Successful polar body-based preimplantation genetic diagnosis for achondroplasia. ( 18284886 )
2008
243
Lumbar nerve root occupancy in the foramen in achondroplasia: a morphometric analysis. ( 18259829 )
2008
244
Ischemic brain damage induced after adenotonsillectomy in achondroplasia. ( 18439482 )
2008
245
Achondroplasia associated with gonadal dysgenesis. ( 18534146 )
2008
246
Achondroplasia: from genotype to phenotype. ( 17950653 )
2008
247
Ultrasound hip evaluation in achondroplasia. ( 18520278 )
2008
248
An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia. ( 17683901 )
2008
249
Age-appropriate body mass index in children with achondroplasia: interpretation in relation to indexes of height. ( 18689372 )
2008
250
Achondroplasia associated with metabolic syndrome: patient report. ( 19012636 )
2008
251
Down syndrome, achondroplasia and tetralogy of Fallot. ( 18196933 )
2008
252
Patellar dislocation in achondroplasia. ( 18043378 )
2008
253
Foramen magnum stenosis from overgrowth of the opisthion in a child with achondroplasia. ( 18671620 )
2008
254
[Prenatal diagnosis of achondroplasia]. ( 18683143 )
2008
255
Novel FGFR3 mutations in exon 7 and implications for expanded screening of achondroplasia and hypochondroplasia: a response to Heuertz et al. ( 17895900 )
2008
256
The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US. ( 18698630 )
2008
257
Cardiopulmonary exercise capacity, muscle strength, and physical activity in children and adolescents with achondroplasia. ( 17188608 )
2007
258
Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia. Report of four cases. ( 18154022 )
2007
259
Weight for age charts for children with achondroplasia. ( 17764078 )
2007
260
Otolaryngologic manifestations of achondroplasia. ( 17372080 )
2007
261
Mortality in achondroplasia study: a 42-year follow-up. ( 17879967 )
2007
262
Fundus albipunctatus in a patient with achondroplasia. ( 17913175 )
2007
263
Distraction osteogenesis of the lower extremity in patients with achondroplasia/hypochondroplasia treated with transplantation of culture-expanded bone marrow cells and platelet-rich plasma. ( 17717461 )
2007
264
Achondroplasia and enchondromatosis: report of three boys. ( 16763840 )
2007
265
Cervical high-intensity intramedullary lesions without spinal cord compression in achondroplasia. ( 17436917 )
2007
266
Locking of the metacarpophalangeal joint as a result of the shape of the metacarpal head in achondroplasia. ( 17950229 )
2007
267
Acute neurological deficit after minor trauma in an infant with achondroplasia and cervicomedullary compression. Case report and review of the literature. ( 18459888 )
2007
268
Early presentation of spinal stenosis in achondroplasia. ( 17314632 )
2007
269
Laminectomies and achondroplasia: does body mass index influence surgical outcomes? ( 17431909 )
2007
270
Thoracic and lumbar pedicle morphometry in achondroplasia. ( 16957649 )
2007
271
Advances in understanding etiology of achondroplasia and review of management. ( 17224659 )
2007
272
Surgical treatment for sleep apnea: changes in craniofacial and pharyngeal airway morphology in a child with achondroplasia. ( 17634732 )
2007
273
PTH has the potential to rescue disturbed bone growth in achondroplasia. ( 17466614 )
2007
274
Non-invasive prenatal detection of achondroplasia in size-fractionated cell-free DNA by MALDI-TOF MS assay. ( 17154237 )
2007
275
Unsuccessful lumbar puncture in a paediatric patient with achondroplasia. ( 17933169 )
2007
276
Development of genu varum in achondroplasia: relation to fibular overgrowth. ( 17259417 )
2007
277
Noninvasive ventilation in a child affected by achondroplasia respiratory difficulty syndrome. ( 17184438 )
2007
278
Ser217Cys mutation in the Ig II domain of FGFR3 in a Chinese family with autosomal dominant achondroplasia. ( 17624273 )
2007
279
Achondroplasia. ( 17630040 )
2007
280
Spinal stenosis surgery in pediatric patients with achondroplasia. ( 17566204 )
2007
281
Rotational profile of the lower extremity in achondroplasia: computed tomographic examination of 25 patients. ( 16944139 )
2006
282
Morphometric determinants of the sagittal dimensions of the cervical spinal canal in achondroplasia: an analysis of the reliability of the Torg ratio. ( 17021417 )
2006
283
Abnormal oral mucosal light reflectance in achondroplasia. ( 16731394 )
2006
284
Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele. ( 16411219 )
2006
285
Orthodontic management of achondroplasia. ( 16909171 )
2006
286
Posterior osteotomy and instrumentation for thoracolumbar kyphosis in patients with achondroplasia. ( 16924200 )
2006
287
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. ( 16912704 )
2006
288
Skin behavior during leg lengthening in patients with achondroplasia and hypochondroplasia: a short-term observation during leg lengthening. ( 16721528 )
2006
289
Cervicomedullary decompression for foramen magnum stenosis in achondroplasia. ( 16572633 )
2006
290
Sonographic diagnosis of SEDC and double heterozygote of SEDC and achondroplasia--a report of six pregnancies. ( 16874841 )
2006
291
A case of achondroplasia with severe pulmonary hypertension due to obstructive sleep apnea. ( 16670917 )
2006
292
Dynamic lower extremity alignment in children with achondroplasia. ( 16791073 )
2006
293
Surgical treatment of achondroplasia with thoracolumbar kyphosis and spinal stenosis--a case report. ( 16819698 )
2006
294
Accurate diagnosis of a homozygous G1138A mutation in the fibroblast growth factor receptor 3 gene responsible for achondroplasia. ( 16434832 )
2006
295
The sagging rope sign in achondroplasia--different from Perthes' disease. ( 16775711 )
2006
296
The strange association between achondroplasia and neurofibromatosis type 1: molecular analysis of a new patient and review of the literature. ( 16970043 )
2006
297
Recent milestones in achondroplasia research. ( 16353253 )
2006
298
MRI study of the lumbar spine in achondroplasia. A morphometric analysis for the evaluation of stenosis of the canal. ( 16943471 )
2006
299
Analysis of lower extremity alignment in achondroplasia: interobserver reliability and intraobserver reproducibility. ( 16439907 )
2006
300
[Fibroblast growth factor receptor and achondroplasia]. ( 17079857 )
2006
301
Sleep disordered breathing in children with achondroplasia. Part 2. Relationship with craniofacial and airway morphology. ( 16406083 )
2006
302
Bifocal tibial corrective osteotomy with lengthening in achondroplasia: an analysis of results and complications. ( 17065948 )
2006
303
Genu varum in achondroplasia. ( 16670552 )
2006
304
Magnetic resonance venography of achondroplasia: correlation of venous narrowing at the jugular foramen with hydrocephalus. ( 16632156 )
2006
305
Prenatal diagnosis of achondroplasia presenting with multiple-suture synostosis: a novel association. ( 16475234 )
2006
306
Neutron diffraction studies of fluid bilayers with transmembrane proteins: structural consequences of the achondroplasia mutation. ( 16950849 )
2006
307
The achondroplasia mutation does not alter the dimerization energetics of the fibroblast growth factor receptor 3 transmembrane domain. ( 16634636 )
2006
308
Aspects of achondroplasia in the skulls of dwarf transgenic mice: a cephalometric study. ( 16463380 )
2006
309
The role of endoscopic third ventriculostomy in the treatment of triventricular hydrocephalus seen in children with achondroplasia. ( 16238080 )
2005
310
First trimester increased nuchal translucency associated with fetal achondroplasia. ( 15838748 )
2005
311
Survey of the present status of sleep-disordered breathing in children with achondroplasia Part I. A questionnaire survey. ( 15763281 )
2005
312
Correction of anterior open bite in a case of achondroplasia. ( 16761710 )
2005
313
Arachnoid cyst resulting in tonsillar herniation and syringomyelia in a patient with achondroplasia. Case report. ( 16398464 )
2005
314
A simple and rapid quantitative method of detection of the common achondroplasia mutation: analysis in mismatch repair deficient cells. ( 16161636 )
2005
315
Failed regional anesthesia with reduced spinal bupivacaine dosage in a parturient with achondroplasia presenting for urgent cesarean section. ( 15795154 )
2005
316
An unusual presentation of achondroplasia. Case report. ( 16370285 )
2005
317
Growth hormone treatment in 35 prepubertal children with achondroplasia: a five-year dose-response trial. ( 16299871 )
2005
318
Orthodontic management of achondroplasia in South Africa. ( 16201001 )
2005
319
Surgical correction of bowlegs in achondroplasia. ( 15931026 )
2005
320
Sagging rope sign in achondroplasia is different from Perthes disease. ( 16294124 )
2005
321
Disappearance of hemifacial spasm after ventriculoperitoneal shunting in a patient with achondroplasia--case report. ( 15722610 )
2005
322
Comparison of clinical, radiological and molecular findings in Korean infants and children with achondroplasia and hypochondroplasia. ( 16355813 )
2005
323
Multiplier method for prediction of adult height in patients with achondroplasia. ( 15958911 )
2005
324
Health supervision for children with achondroplasia. ( 16140722 )
2005
325
PCR-induced sequence alterations hamper the typing of prehistoric bone samples for diagnostic achondroplasia mutations. ( 15254256 )
2004
326
Spinal fusion for kyphosis in achondroplasia. ( 15308905 )
2004
327
Living with achondroplasia: quality of life evaluation following cervico-medullary decompression. ( 15487008 )
2004
328
Spinal arthrodesis with instrumentation for thoracolumbar kyphosis in pediatric achondroplasia. ( 15371713 )
2004
329
Constitutive activation of MEK1 in chondrocytes causes Stat1-independent achondroplasia-like dwarfism and rescues the Fgfr3-deficient mouse phenotype. ( 14871928 )
2004
330
Rapid combined genotyping assay for four achondroplasia and hypochondroplasia mutations by real-time PCR with multiple detection probes. ( 15345118 )
2004
331
Defective lysosomal targeting of activated fibroblast growth factor receptor 3 in achondroplasia. ( 14699054 )
2004
332
Management of disabilities associated with achondroplasia. ( 14767713 )
2004
333
Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysis. ( 15221641 )
2004
334
Prenatal diagnosis of achondroplasia. ( 15284703 )
2004
335
Do parents and grandparents of patients with achondroplasia have a higher cancer risk? ( 15372518 )
2004
336
Overexpression of CNP in chondrocytes rescues achondroplasia through a MAPK-dependent pathway. ( 14702637 )
2004
337
Acanthosis nigricans in a boy with achondroplasia due to the classical Gly380Arg mutation in FGFR3. ( 15517832 )
2004
338
Improved prenatal detection of a fetal point mutation for achondroplasia by the use of size-fractionated circulatory DNA in maternal plasma--case report. ( 15565648 )
2004
339
Molecular basis for the treatment of achondroplasia. ( 14671399 )
2003
340
Correction of lumbosacral hyperlordosis in achondroplasia. ( 12966299 )
2003
341
Thoracolumbar spinal deformity in achondroplasia. ( 15766221 )
2003
342
Living with achondroplasia: attitudes toward population screening and correlation with quality of life. ( 14663838 )
2003
343
Achondroplasia and enchondromatosis in a female child. ( 12774176 )
2003
344
Molecular diagnosis in a pregnancy at risk for both spondyloepiphyseal dysplasia congenita and achondroplasia. ( 14558035 )
2003
345
Fibroblast growth factor receptor-3 as a therapeutic target for Achondroplasia--genetic short limbed dwarfism. ( 12816345 )
2003
346
Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia. ( 12476453 )
2003
347
Detection of achondroplasia G380R mutation from PCR amplicons by using inosine modified carbon electrodes based on electrochemical DNA chip technology. ( 14500035 )
2003
348
Living with achondroplasia in an average-sized world: an assessment of quality of life. ( 12884421 )
2003
349
Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene. ( 12921294 )
2003
350
[Mutations in the Fibroblast Growth Factor Receptor 3 gene (FGFR3) in Chilean patients with idiopathic short stature, hypochondroplasia and achondroplasia]. ( 15022403 )
2003
351
The comparison of the effects of short-term growth hormone treatment in patients with achondroplasia and with hypochondroplasia. ( 12733711 )
2003
352
Oral findings in a typical case of achondroplasia. ( 12870378 )
2003
353
Anaesthetic management of a patient with achondroplasia. ( 12846715 )
2003
354
Preimplantation genetic diagnosis for achondroplasia: genetics and gynaecological limits and difficulties. ( 12615816 )
2003
355
Observations on the cause of bowlegs in achondroplasia. ( 11744865 )
2002
356
Achondroplasia: 3D-CT evaluation of the cervical spine. ( 15457746 )
2002
357
Another condition--not achondroplasia--masquerading in a recent textbook. ( 12269255 )
2002
358
[Detection of fibroblast growth factor receptor 3 gene mutation at nucleotide 1138 site in congenita achondroplasia patients]. ( 12048679 )
2002
359
Achondroplasia. ( 12147902 )
2002
360
Deformities of the elbow in achondroplasia. ( 12188484 )
2002
361
The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect. ( 12397172 )
2002
362
Cone-rod retinal dystrophy and Duane retraction syndrome in a patient with achondroplasia. ( 12506285 )
2002
363
Surgical treatment of lumbar stenosis in achondroplasia. ( 11990837 )
2002
364
Issues surrounding prenatal genetic testing for achondroplasia. ( 12378581 )
2002
365
Polyhydramnios: a predictor of severe growth impairment in achondroplasia. ( 12183727 )
2002
366
Fibroblast growth factor receptor 3 mutations in achondroplasia and related forms of dwarfism. ( 12424440 )
2002
367
Bilateral humeral lengthening in achondroplasia. ( 11603677 )
2001
368
Severe pulmonary hypertension in an infant with achondroplasia. ( 11589938 )
2001
369
Skeletal development of achondroplasia: analysis of genotyped patients. ( 11472579 )
2001
370
Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype. ( 11754059 )
2001
371
Three-dimensional sonographic aspects in the antenatal diagnosis of achondroplasia. ( 11489233 )
2001
372
Clinical and molecular characteristics of Thai patients with achondroplasia. ( 11556601 )
2001
373
A Ser(365)-->Cys mutation of fibroblast growth factor receptor 3 in mouse downregulates Ihh/PTHrP signals and causes severe achondroplasia. ( 11181569 )
2001
374
Facial palsy and achondroplasia: a rare association. ( 11506333 )
2001
375
[From gene to disease; achondroplasia and other skeletal dysplasias due to an activating mutation in the fibroblast growth factor]. ( 11414167 )
2001
376
Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3. ( 11426459 )
2001
377
Trigeminal neuralgia associated with achondroplasia. Case report with literature review. ( 11731870 )
2001
378
Absence of correlation between infantile hypotonia and foramen magnum size in achondroplasia. ( 11343336 )
2001
379
Deformation across the zone of callotasis during loading. radiostereometric analysis in a patient with achondroplasia. ( 11347700 )
2001
380
A case of achondroplasia with severe respiratory failure, profound developmental delay and hypercreatine phosphokinasemia. ( 11059551 )
2000
381
Achondroplasia in diverse Jewish and Arab populations in Israel: clinical and molecular characterization. ( 10979354 )
2000
382
Analysis of the FGFR3 gene in Japanese patients with achondroplasia and hypochondroplasia. ( 10890199 )
2000
383
FGFR3 gene mutation (Gly380Arg) with achondroplasia and i(21q) Down syndrome: phenotype-genotype correlation. ( 10881785 )
2000
384
Isolated subaxial cervical spine stenosis in achondroplasia. ( 11024249 )
2000
385
The neurological complications of achondroplasia. ( 10761826 )
2000
386
Perioperative intracranial hemorrhage in achondroplasia: a case report. ( 10905569 )
2000
387
The use of gated cine phase contrast and MR venography in achondroplasia. ( 11048631 )
2000
388
An uncommon G375C substitution in a newborn with achondroplasia. ( 10893668 )
2000
389
Increased carbohydrate-deficient transferrin concentration and abnormal protein glycosylation of unknown etiology in a patient with achondroplasia. ( 10759489 )
2000
390
Achondroplasia and nail-patella syndrome: the compound phenotype. ( 10978372 )
2000
391
Growth hormone therapy in achondroplasia. ( 10971105 )
2000
392
The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. ( 10696568 )
2000
393
Expression of FGFR3 with the G380R achondroplasia mutation inhibits proliferation and maturation of CFK2 chondrocytic cells. ( 10646125 )
2000
394
Germline and somatic mosaicism in achondroplasia. ( 11186939 )
2000
395
[Differentiation of achondroplasia and other similar genetic dwarfism by FGFR3 gene analysis]. ( 10932008 )
2000
396
[Molecular basis of achondroplasia, hypochondroplasia, and thanatophoric dysplasia]. ( 11057021 )
2000
397
Reoperation for spinal restenosis in achondroplasia. ( 10780694 )
2000
398
Achondroplasia with the FGFR3 1138g-->a (G380R) mutation in two sibs sharing a 4p haplotype derived from their unaffected father. ( 11186940 )
2000
399
Recurrence risk for sibs of children with "sporadic" achondroplasia. ( 10678665 )
2000
400
Effects of lower-leg lengthening on bone mineral density and soft tissue composition of legs in a patient with achondroplasia. ( 11052467 )
2000
401
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3. ( 10377013 )
1999
402
[Mutations of the fibroblast growth factor receptor 3 gene in achondroplasia]. ( 9949234 )
1999
403
Molecular defects in achondroplasia and the effects of growth hormone treatment. ( 10102070 )
1999
404
Whole body bone mass and body composition in a girl with achondroplasia, at ages 9 through 12. ( 10499979 )
1999
405
[Gly380Arg and Asn540Lys mutations of fibroblast growth factor receptor 3 in achondroplasia and hypochndroplasia in the Spanish population]. ( 10207844 )
1999
406
Neuroanatomic and neuropsychological outcome in school-age children with achondroplasia. ( 10206234 )
1999
407
Abnormal subcortical somatosensory evoked potentials indicate high cervical myelopathy in achondroplasia. ( 10445347 )
1999
408
Mutations in the fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia, hypochondroplasia, and thanatophoric dysplasia: Taiwanese data. ( 10482885 )
1999
409
Achondroplasia associated with pelvic lipomatosis. ( 10459944 )
1999
410
Treatment of achondroplasia with growth hormone: six years of experience. ( 10509364 )
1999
411
Achondroplasia-hypochondroplasia complex in a newborn infant. ( 10360392 )
1999
412
Compound heterozygosity for the Achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome. ( 10360393 )
1999
413
A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3. ( 10200283 )
1999
414
Obstructive sleep apnea in children with achondroplasia: surgical and anesthetic considerations. ( 9949360 )
1999
415
Achondroplasia and cervicomedullary compression: prospective evaluation and surgical treatment. ( 10592476 )
1999
416
Jugular bulb dehiscence in achondroplasia. ( 10375043 )
1999
417
Achondroplasia associated with pelvic lipomatosis. ( 10459943 )
1999
418
Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis. ( 10587515 )
1999
419
Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update. ( 10405653 )
1999
420
Orthodontic treatment of Class II division 1 malocclusion in a patient with achondroplasia. ( 9709839 )
1998
421
Achondroplasia: a case of neglect? ( 9872238 )
1998
422
Sequence, structure and chromosomal localization of Crtm gene encoding mouse cartilage matrix protein and its exclusion as a candidate for murine achondroplasia. ( 9569124 )
1998
423
Effect of growth hormone therapy in children with achondroplasia: growth pattern, hypothalamic-pituitary function, and genotype. ( 9539301 )
1998
424
Lung volume histograms after computed tomography of the chest with three-dimensional imaging as a method to substantiate successful surgical expansion of the rib cage in achondroplasia. ( 9607482 )
1998
425
Functional health status of adults with achondroplasia. ( 9637420 )
1998
426
Distinct patterns of respiratory difficulty in young children with achondroplasia: a clinical, sleep, and lung function study. ( 9797588 )
1998
427
Mutation in the gene encoding the fibroblast growth factor receptor-3 in Korean children with achondroplasia. ( 9745773 )
1998
428
Japanese sisters with Pfeiffer syndrome and achondroplasia: a mutation analysis. ( 9780920 )
1998
429
Medical complications of achondroplasia: a multicentre patient review. ( 9733026 )
1998
430
Achondroplasia, hypochondroplasia and thanatophoric dysplasia: clinically related skeletal dysplasias that are also related at the molecular level. ( 9869286 )
1998
431
Sleep-disordered breathing in children with achondroplasia. ( 9580768 )
1998
432
FGFR3 gene mutations in transmembrane domain in Chinese achondroplasia and hypochondroplasia patients. ( 9554479 )
1998
433
Genotype phenotype correlation in achondroplasia and hypochondroplasia. ( 9853502 )
1998
434
[Achondroplasia: molecular study of 28 patients]. ( 9611730 )
1998
435
Achondroplasia associated with Down syndrome. ( 9605293 )
1998
436
Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome. ( 9718331 )
1998
437
The diameter of callus in leg lengthening: 28 tibial lengthenings in 14 patients with achondroplasia. ( 9703409 )
1998
438
The Bmp8 gene is expressed in developing skeletal tissue and maps near the Achondroplasia locus on mouse chromosome 4. ( 9070944 )
1997
439
Bone marrow transplantation in a patient with chronic myeloid leukemia and achondroplasia. ( 9499671 )
1997
440
Lengthening of the lower limbs in patients with achondroplasia and hypochondroplasia. ( 9372781 )
1997
441
Achondroplasia: recent advances in diagnosis and treatment. ( 9316303 )
1997
442
An improved methodology for the detection of the common mutation in the FGFR3 gene responsible for achondroplasia. ( 9401015 )
1997
443
Hydrocephalus and chronically increased intracranial pressure in achondroplasia. ( 9272288 )
1997
444
Early detection of neurological manifestations in achondroplasia. ( 9202856 )
1997
445
Chimeras of the native form or achondroplasia mutant (G375C) of human fibroblast growth factor receptor 3 induce ligand-dependent differentiation of PC12 cells. ( 9199352 )
1997
446
Mutations causing achondroplasia and thanatophoric dysplasia alter bFGF-induced calcium signals in human diploid fibroblasts. ( 9158142 )
1997
447
Atypical achondroplasia. ( 9128943 )
1997
448
Prevention of fixed, angular kyphosis in achondroplasia. ( 9591973 )
1997
449
Dwarfism in Dexter cattle is not caused by the mutations in FGFR3 responsible for achondroplasia in humans. ( 9124710 )
1997
450
Growth and growth hormone therapy in children with achondroplasia: a two-year experience. ( 9295079 )
1997
451
Urine leakage from the umbilicus in a child with achondroplasia and tetraplegia (due to cervical stenosis): a safety vent for the obstructed neuropathic bladder. ( 9203037 )
1997
452
Biophysical bases for delayed and aberrant motor development in young children with achondroplasia. ( 9213228 )
1997
453
Effects and serum levels of thrombopoietin in a case of chronic thrombocytopenia with achondroplasia. ( 9220665 )
1997
454
1997 Albert Lasker Award for Special Achievement in Medical Science. Observations over 50 years concerning intestinal polyposis, Marfan syndrome and achondroplasia. ( 9334707 )
1997
455
Human growth hormone treatment in prepubertal children with achondroplasia. ( 8834055 )
1996
456
Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism. ( 8723101 )
1996
457
Limb lengthening in children with achondroplasia. Differences based on gender. ( 8913161 )
1996
458
Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia. ( 8640234 )
1996
459
Achondroplasia. ( 8920380 )
1996
460
Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia. ( 8599935 )
1996
461
Sleep and upper airway obstruction in children with achondroplasia. ( 8917243 )
1996
462
Fibroblast growth factor receptor 3 (FGFR3) gene G1138A mutation in Chinese patients with achondroplasia. ( 8844216 )
1996
463
[Association of achondroplasia to a mutation in the transmembrane domain of fibroblastic growth factor receptor 3 (FGFR3)]. ( 8949407 )
1996
464
Errors in the prenatal diagnosis of children with achondroplasia. ( 8809893 )
1996
465
Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia and thanatophoric dysplasia. ( 9055906 )
1996
466
Prenatal diagnosis of achondroplasia using the nested polymerase chain reaction with modified primer sets. ( 9115628 )
1996
467
Overnight growth hormone secretion in achondroplasia: deconvolution analysis, correlation with sleep state, and changes after treatment of obstructive sleep apnea. ( 8929879 )
1996
468
[Mutations of FGFR3 gene cause 3 types of nanisms with variably severity: achondroplasia, thanatophoric nanism and hypochondroplasia]. ( 8949408 )
1996
469
Case report: renal osteodystrophy in association with spinal stenosis in achondroplasia. ( 8824015 )
1996
470
Mutations of the fibroblast growth factor receptor-3 gene in achondroplasia. ( 8742128 )
1996
471
Analysis of cellular proteins in achondroplasia by two-dimensional electrophoresis. ( 8871281 )
1996
472
Posterior fossa decompression without duraplasty in infants and young children for treatment of Chiari malformation and achondroplasia. ( 9309784 )
1996
473
Ultrasound and molecular mid-trimester prenatal diagnosis of de novo achondroplasia. ( 8878289 )
1996
474
Standard curves of chest circumference in achondroplasia and the relationship of chest circumference to respiratory problems. ( 8779333 )
1996
475
Achondroplasia in Sweden caused by the G1138A mutation in FGFR3. ( 9001669 )
1996
476
The surgical treatment of vertebral deformities in achondroplastic dwarfism. ( 8968116 )
1996
477
Short-term recombinant human growth hormone treatment increases growth rate in achondroplasia. ( 8923856 )
1996
478
Chinese achondroplasia is also defined by recurrent G380R mutations of the fibroblast growth factor receptor-3 gene. ( 8682509 )
1996
479
Standard weight for height curves in achondroplasia. ( 8882783 )
1996
480
Surgical management of cervicomedullary compression in achondroplasia. ( 9118140 )
1996
481
A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia. ( 7758520 )
1995
482
Health supervision for children with achondroplasia. American Academy of Pediatrics Committee on Genetics. ( 7862491 )
1995
483
Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia. ( 7887429 )
1995
484
A case of achondroplasia with downward displacement of the brain stem. ( 7666963 )
1995
485
Information update on Achondroplasia. ( 7700776 )
1995
486
Treatment of obstructive sleep apnea in achondroplasia: evaluation of sleep, breathing, and somatosensory-evoked potentials. ( 8585566 )
1995
487
Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients. ( 7649548 )
1995
488
Achondroplasia is defined by recurrent G380R mutations of FGFR3. ( 7847369 )
1995
489
Brain morphometric analysis in achondroplasia. ( 7898709 )
1995
490
Cervicomedullary junction compression in infants with achondroplasia: when to perform neurosurgical decompression. ( 7717392 )
1995
491
Atypical radiological findings in achondroplasia with uncommon mutation of the fibroblast growth factor receptor-3 (FGFR-3) gene (Gly to Cys transition at codon 375) ( 8599370 )
1995
492
Surgical intervention in achondroplasia. ( 7762574 )
1995
493
Craniocervical stenosis and apnea spells in a 2-month-old baby with achondroplasia. ( 8576562 )
1995
494
Lung hypoplasia and severe pulmonary hypertension in an infant with double heterozygosity for spondyloepiphyseal dysplasia congenita and achondroplasia. ( 7586642 )
1995
495
Effect of paternal age in achondroplasia, thanatophoric dysplasia, and osteogenesis imperfecta. ( 8588588 )
1995
496
A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia. ( 7702086 )
1995
497
Homozygous achondroplasia: US distinction between homozygous, heterozygous, and unaffected fetuses in the second trimester. ( 7617874 )
1995
498
Predominance of the mutation at 1138 of the cDNA for the fibroblast growth factor receptor 3 in Japanese patients with achondroplasia. ( 8851771 )
1995
499
Achondroplasia: pre- and postsurgical considerations for midface advancement. ( 8130246 )
1994
500
Prenatal ultrasonographic demonstration of the trident hand in heterozygous achondroplasia. ( 7636958 )
1994
501
Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. ( 7913883 )
1994
502
Foramen magnum stenosis and bilateral benign subdural collections in achondroplasia: case report. ( 7562034 )
1994
503
A gene for achondroplasia-hypochondroplasia maps to chromosome 4p. ( 8012398 )
1994
504
Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p. ( 8081365 )
1994
505
Therapy-resistant papilledema in achondroplasia. ( 8032476 )
1994
506
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. ( 8078586 )
1994
507
Achondroplasia with XXY karyotype. ( 8062443 )
1994
508
The gene for achondroplasia maps to the telomeric region of chromosome 4p. ( 8012397 )
1994
509
Two sibs who are double heterozygotes for achondroplasia and pseudoachondroplastic dysplasia. ( 7966194 )
1994
510
Cervicomedullary compression in achondroplasia. ( 8207526 )
1994
511
First-trimester prenatal diagnosis in couple at risk for homozygous achondroplasia. ( 7968151 )
1994
512
Sonographic prenatal diagnosis of heterozygous achondroplasia: a case report. ( 7745378 )
1994
513
Achondroplasia and spinal cord lesion. Three case reports. ( 8337000 )
1993
514
Breathing abnormalities in sleep in achondroplasia. ( 8215519 )
1993
515
Hearing loss and temporal bone structure in achondroplasia. ( 8456822 )
1993
516
Achondroplasia ( 20301331 )
1993
517
Growth hormone therapy in achondroplasia. ( 8317186 )
1993
518
Patient with double heterozygosity for achondroplasia and pseudoachondroplasia, with comments on these conditions and the relationship between pseudoachondroplasia and multiple epiphyseal dysplasia, Fairbank type. ( 8267011 )
1993
519
Cognitive skills in achondroplasia. ( 8267016 )
1993
520
Growth hormone (GH) treatment in achondroplasia. ( 8374688 )
1993
521
Ultrasonographic features in a case of heterozygous achondroplasia at 25 weeks' gestation. ( 8341638 )
1993
522
Comprehensive correction of the craniofacial deformity in achondroplastic dwarfism. ( 1466552 )
1992
523
Achondroplasia: unusual bone abnormalities of the cervical spine. ( 1635629 )
1992
524
Chest wall deformity and respiratory distress in a 17-year-old patient with achondroplasia: CT and MRI evaluation. ( 1508600 )
1992
525
Growth hormone therapy in achondroplasia. ( 1632435 )
1992
526
Lethal skeletal dysplasia owing to double heterozygosity for achondroplasia and spondyloepiphyseal dysplasia congenita. ( 1453438 )
1992
527
Growth-promoting effect of human growth hormone on patients with achondroplasia. ( 1785332 )
1991
528
Analysis of the chondroitin sulfate proteoglycan core protein (CSPGCP) gene in achondroplasia and pseudoachondroplasia. ( 1670752 )
1991
529
Radiographic features of the bones of the hand and wrist in achondroplasia: report of case. ( 1939806 )
1991
530
Achondroplasia and lumbar spinal stenosis. ( 1797731 )
1991
531
Neuroblastoma in a dwarfed newborn. Possible clue to the chromosomal localization of the gene for achondroplasia? ( 1952787 )
1991
532
Middle ear disease in childhood achondroplasia. ( 1914954 )
1991
533
A clinical observation of achondroplasia. ( 1776446 )
1991
534
Leg lengthening: patient selection and management in achondroplasia. ( 1945337 )
1991
535
Stenosis of the spinal canal in achondroplasia. ( 1791130 )
1991
536
Prediction of the growth in patients with achondroplasia. ( 1759634 )
1991
537
Variation of quantitative and qualitative changes of enchondral ossification in heterozygous achondroplasia. ( 1906169 )
1991
538
Molecular analysis of a patient with neurofibromatosis 1 and achondroplasia. ( 1909491 )
1991
539
Neurologic morbidity associated with achondroplasia. ( 2161033 )
1990
540
Lengthening of the lower limbs and correction of lumbar hyperlordosis in achondroplasia. ( 2293921 )
1990
541
The lungs and airways in achondroplasia. Do little people have little lungs? ( 2361382 )
1990
542
Craniocervical decompression for cervicomedullary compression in pediatric patients with achondroplasia. ( 2384775 )
1990
543
The achondroplasia gene is not linked to the locus for neurofibromatosis 1 on chromosome 17. ( 2162805 )
1990
544
Spinal dysraphism in achondroplasia. ( 2133408 )
1990
545
Comparison of education and occupation of adults with achondroplasia with same-sex sibs. ( 2309765 )
1990
546
Apneustic breathing. A characteristic feature of brainstem compression in achondroplasia? ( 2323256 )
1990
547
Foramen magnum decompression in infants with homozygous achondroplasia. ( 2303889 )
1990
548
Extradural anaesthesia for caesarean section in achondroplasia. ( 2328185 )
1990
549
Homozygous achondroplasia: morphologic and biochemical study of cartilage. ( 2260574 )
1990
550
Bes, Aesop and Morgante: reflections of achondroplasia. ( 2190719 )
1990
551
Development of pseudo-achondroplasia over a 30-year period in an adult patient. ( 2667861 )
1989
552
Limb lengthening for achondroplasia: early experience. ( 2794023 )
1989
553
Human achondroplasia: defective mitochondrial oxidative energy metabolism may produce the pathophysiology. ( 2560262 )
1989
554
Growth of the foramen magnum in achondroplasia. ( 2773998 )
1989
555
Narrowing of thoraco-lumbar spinal canal in achondroplasia. ( 2677264 )
1989
556
MR imaging of the craniovertebral junction, cranium, and brain in children with achondroplasia. ( 2763957 )
1989
557
The prospective management of cervicomedullary compression in achondroplasia. ( 2697385 )
1989
558
Hydrocephalus in achondroplasia: the possible role of intracranial venous hypertension. ( 2786928 )
1989
559
Foramen magnum decompression for homozygous achondroplasia. ( 2746357 )
1989
560
Foramen magnum decompression in an infant with homozygous achondroplasia. Case report. ( 2909672 )
1989
561
Megalencephaly in thanatophoric dysplasia and in achondroplasia. ( 2585221 )
1989
562
Kyphosis in achondroplasia: probably preventable. ( 3335958 )
1988
563
Molecular genetic studies in achondroplasia. ( 2907290 )
1988
564
Cervicomedullary cord compression in young children with achondroplasia: value of comprehensive neurologic and respiratory evaluation. ( 3240254 )
1988
565
Kyphosis and lumbar stenosis in achondroplasia. ( 3240265 )
1988
566
CT of the temporal bone in achondroplasia. ( 3143244 )
1988
567
Molecular studies in achondroplasia using Co12A1 probes. ( 3240285 )
1988
568
Clinical variability in achondroplasia. ( 3071355 )
1988
569
Birth prevalence and mutation rate of achondroplasia in the Italian Multicentre Monitoring System for Birth Defects. ( 3071354 )
1988
570
The natural history of achondroplasia. ( 3071358 )
1988
571
Achondroplasia--a clinician's viewpoint. ( 3071356 )
1988
572
Achondroplasia: an altered GH control in post-receptorial chondrocyte cell sites? ( 3240242 )
1988
573
Achondroplasia in sibs of normal parents. ( 3236371 )
1988
574
Social implications of achondroplasia--a public health review. ( 3240283 )
1988
575
Bone formation in achondroplasia. ( 3240240 )
1988
576
Anatomy of the lumbar spine in achondroplasia. ( 3240258 )
1988
577
An analysis of referrals to a regional leg-lengthening service with special reference to achondroplasia. ( 3240276 )
1988
578
Leg lengthening in achondroplasia. ( 2896876 )
1988
579
The psychodynamics of achondroplasia. ( 3240281 )
1988
580
Spirometry and chest wall dimensions in achondroplasia. ( 3338305 )
1988
581
Cervicomedullary compression with achondroplasia. ( 3397808 )
1988
582
Neurological basis of respiratory complications in achondroplasia. ( 3415202 )
1988
583
Orthopedic aspects of achondroplasia in children. ( 3240253 )
1988
584
Otologic impairments in achondroplasia: a nosologic assessment. ( 3240244 )
1988
585
Treatment of kyphosis and lumbar stenosis in achondroplasia. ( 3240263 )
1988
586
Neurological considerations in achondroplasia. ( 3240245 )
1988
587
Audiologic findings in achondroplasia. ( 3240243 )
1988
588
Achondroplasia with ankylosing spondylitis. ( 3223492 )
1988
589
Human achondroplasia. A multidisciplinary approach. Proceedings of the first international symposium. November 19-21, 1986, Rome, Italy. Volume dedicated to Dr. Alexander Hollaender. ( 3071353 )
1988
590
Limb lengthening in achondroplasia by Ilizarov's method. ( 3182120 )
1988
591
Magnetic resonance imaging in the assessment of medullary compression in achondroplasia. ( 3046333 )
1988
592
Strategies for limb lengthening in achondroplasia using the Ilizarov method--the experience of the hospital of Lecco, Italy. ( 3240274 )
1988
593
The unreliability of metacarpo-phalangeal profile (MPP) in the diagnosis of achondroplasia. ( 3240251 )
1988
594
Anaesthetic management of achondroplasia. ( 3377939 )
1988
595
Metacarpophalangeal relations in 21 Danish patients with achondroplasia. ( 3342645 )
1988
596
The skull in achondroplasia. ( 3240239 )
1988
597
Obesity in achondroplasia. ( 3228140 )
1988
598
Surgical treatment of kyphosis in achondroplasia. ( 3240260 )
1988
599
Social implications of achondroplasia--a public health view. ( 3240282 )
1988
600
Relevant principles in the management of spinal disorders in achondroplasia. ( 3240264 )
1988
601
Lengthening of the lower limbs and correction of lumbar hyperlordosis in achondroplasia. ( 3240272 )
1988
602
Achondroplasia is not caused by mutation in the gene for type II collagen. ( 2899976 )
1988
603
Extended laminectomy for spinal stenosis in achondroplasia. ( 3240261 )
1988
604
Histochemical and ultrastructural study of the growth plate in achondroplasia. ( 3240286 )
1988
605
Premutation in achondroplasia. ( 3240248 )
1988
606
Radiologic features of achondroplasia. ( 3240266 )
1988
607
Growth plate cartilage studies in achondroplasia. ( 3240287 )
1988
608
Pediatric patients with achondroplasia: CT evaluation of the craniocervical junction. ( 3602395 )
1987
609
Mortality in achondroplasia. ( 3631079 )
1987
610
Levels of creatine kinase activity in cartilage of tubular and nontubular bone in relation to pathogenesis of achondroplasia. ( 3581582 )
1987
611
Reversibility of deficient sleep entrained growth hormone secretion in a boy with achondroplasia and obstructive sleep apnea. ( 3661058 )
1987
612
Achondroplasia-hypochondroplasia complex. ( 3591840 )
1987
613
Surgery for achondroplasia. Perioperative challenges of dwarfism. ( 3650052 )
1987
614
Thoracolumbosacral laminectomy in achondroplasia: long-term results in 22 patients. ( 3425618 )
1987
615
Genetic counselling in unexpected familial recurrence of achondroplasia. ( 3688033 )
1987
616
Cervicomedullary compression in young patients with achondroplasia: value of comprehensive neurologic and respiratory evaluation. ( 3559799 )
1987
617
Achondroplasia: effectiveness of an orthosis in reducing deformity of the spine. ( 3592956 )
1987
618
Cytochrome a3 deficiency in human achondroplasia. ( 3030420 )
1987
619
Speculation on the role of transposable elements in human genetic disease with particular attention to achondroplasia and the fragile X syndrome. ( 3006492 )
1986
620
In utero analysis of heterozygous achondroplasia: variable time of onset as detected by femur length measurements. ( 3517360 )
1986
621
Studies of human achondroplasia: oxidative metabolism in tissue culture cells. ( 3738813 )
1986
622
Achondroplasia and parental age. ( 3945286 )
1986
623
Foramen magnum stenosis in homozygous achondroplasia. ( 3816858 )
1986
624
Evidence against the structural gene encoding type II collagen (COL2A1) as the mutant locus in achondroplasia. ( 3005580 )
1986
625
Anaesthetic management of achondroplasia. ( 3942661 )
1986
626
A case report of achondroplasia. ( 3100179 )
1986
627
Nonrandom association of a type II procollagen genotype with achondroplasia. ( 2991928 )
1985
628
Familial recurrence of achondroplasia. ( 4061493 )
1985
629
Achondroplasia and obstructive sleep apnea: correction of apnea and abnormal sleep-entrained growth hormone release by tracheostomy. ( 4041579 )
1985
630
A morphometric analysis of the craniofacial configuration in achondroplasia. ( 3877092 )
1985
631
"Unstable premutation" in achondroplasia: penetrance vs phenotrance. ( 6507476 )
1984
632
Long-term neurological sequelae in achondroplasia. ( 6510432 )
1984
633
Apnea as the sole manifestation of cord compression in achondroplasia. ( 6707795 )
1984
634
Short-latency somatosensory evoked potentials in the management of patients with achondroplasia. ( 6540385 )
1984
635
Achondroplasia: unexpected familial recurrence. ( 6507475 )
1984
636
Alternative explanations for recurrent achondroplasia in siblings of normal parents. ( 6733952 )
1984
637
Brain tumor and achondroplasia: a case report and review of the literature. ( 6472587 )
1984
638
Apnea and sudden unexpected death in infants with achondroplasia. ( 6707788 )
1984
639
Myelography in achondroplasia: value of a lateral C1-2 puncture and non-ionic, water-soluble contrast medium. ( 6611923 )
1983
640
Homozygous achondroplasia with survival beyond infancy. ( 6660245 )
1983
641
Achondroplasia and pregnancy. ( 6613102 )
1983
642
Ketamine induction for cesarean section in a patient with acute intermittent porphyria and achondroplastic dwarfism. ( 6869873 )
1983
643
Germinal mosaicism in achondroplasia: a family with 3 affected siblings of normal parents. ( 6627718 )
1983
644
Presumed homozygous achondroplasia. A review and report of a further case. ( 6359101 )
1983
645
Achondroplasia associated with obstructive sleep apnea. ( 6625996 )
1983
646
Achondroplasia and hypochondroplasia. Clinical variation and spinal stenosis. ( 7298674 )
1981
647
Choanal atresia with achondroplasia. ( 7351612 )
1980
648
Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate, and radiological features in skull and spine. ( 458831 )
1979
649
Probable case of achondroplasia-hypochondroplasia compound. ( 4461068 )
1974
650
Observations suggesting allelism of the achondroplasia and hypochondroplasia genes. ( 4697848 )
1973
651
Significance of the small lumbar spinal canal: cauda equina compression syndromes due to spondylosis. 5. Achondroplasia. ( 5351762 )
1969
652
Thanatophoric dwarfism. A condition confused with achondroplasia in the neonate, with brief comments on achondrogenesis and homozygous achondroplasia. ( 4885523 )
1969
653
Megalencephaly, internal hydrocephalus and other neurological aspects of achondroplasia. ( 13885465 )
1961

Variations for Achondroplasia

UniProtKB/Swiss-Prot genetic disease variations for Achondroplasia:

71 (showing 3, show less)
# Symbol AA change Variation ID SNP ID
1 FGFR3 p.Gly375Cys VAR_004154 rs75790268
2 FGFR3 p.Gly380Arg VAR_004155 rs28931614
3 FGFR3 p.Lys650Met VAR_004161 rs121913105

ClinVar genetic disease variations for Achondroplasia:

6 (showing 6, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 FGFR3 NM_000142.4(FGFR3): c.1138G> A (p.Gly380Arg) single nucleotide variant Pathogenic rs28931614 GRCh37 Chromosome 4, 1806119: 1806119
2 FGFR3 NM_000142.4(FGFR3): c.1138G> C (p.Gly380Arg) single nucleotide variant Pathogenic rs28931614 GRCh37 Chromosome 4, 1806119: 1806119
3 FGFR3 NM_000142.4(FGFR3): c.1123G> T (p.Gly375Cys) single nucleotide variant Pathogenic rs75790268 GRCh37 Chromosome 4, 1806104: 1806104
4 FGFR3 NM_000142.4(FGFR3): c.1620C> A (p.Asn540Lys) single nucleotide variant Pathogenic rs28933068 GRCh37 Chromosome 4, 1807371: 1807371
5 FGFR3 NM_001163213.1(FGFR3): c.1626C> G (p.Asn542Lys) single nucleotide variant Pathogenic rs28933068 GRCh37 Chromosome 4, 1807371: 1807371
6 FGFR3 NM_000142.4(FGFR3): c.835A> T (p.Ser279Cys) single nucleotide variant Pathogenic rs121913114 GRCh37 Chromosome 4, 1803657: 1803657

Expression for Achondroplasia

Search GEO for disease gene expression data for Achondroplasia.

Pathways for Achondroplasia

Pathways related to Achondroplasia according to GeneCards Suite gene sharing:

(showing 35, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.66 ACAN BMP8B FGFR1 FGFR2 FGFR3 MAP2K1
2
Show member pathways
13.37 BMP8B FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
3
Show member pathways
12.92 ACAN FGFR1 FGFR2 FGFR3 MAP2K1
4
Show member pathways
12.91 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
5
Show member pathways
12.71 FGF3 FGFR1 FGFR2 FGFR3
6
Show member pathways
12.7 COMP FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
7 12.68 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
8
Show member pathways
12.62 FGF3 FGFR1 FGFR2 MAP2K1
9 12.6 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
10
Show member pathways
12.58 FGF3 FGFR1 FGFR2 FGFR3
11
Show member pathways
12.56 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
12
Show member pathways
12.44 FGF3 FGFR1 FGFR2 FGFR3
13 12.41 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
14
Show member pathways
12.37 FGFR1 FGFR2 FGFR3 MAP2K1
15
Show member pathways
12.31 FGFR1 FGFR2 FGFR3 MAP2K1
16
Show member pathways
12.27 FGF3 FGFR1 FGFR2 FGFR3
17
Show member pathways
12.26 FGF3 FGFR1 FGFR2 FGFR3
18
Show member pathways
12.18 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
19
Show member pathways
12.14 FGF3 FGFR1 FGFR2 FGFR3
20
Show member pathways
12.1 FGFR1 FGFR2 FGFR3 MAP2K1
21
Show member pathways
12.06 FGFR1 FGFR2 FGFR3 MAP2K1
22 11.98 FGFR1 FGFR2 FGFR3
23
Show member pathways
11.98 FGF3 FGFR1 FGFR2 FGFR3
24 11.88 FGFR1 FGFR2 FGFR3 MAP2K1
25 11.74 FGFR1 FGFR2 FGFR3
26 11.67 FGFR1 FGFR3 SOX9
27 11.63 FGFR1 FGFR2 FGFR3 SOX9
28 11.32 FGFR1 FGFR2 FGFR3
29 11.27 FGFR1 FGFR2 FGFR3 MAP2K1
30 11.27 FGFR1 FGFR2 FGFR3 MAP2K1
31 11.22 ACAN COMP
32 11.17 ACAN FGFR1 FGFR3 PTH1R SOX9
33 10.97 FGFR1 MAP2K1
34 10.64 ACAN BMP8B FGFR1 FGFR2 FGFR3 MAP2K1
35 10.64 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1

GO Terms for Achondroplasia

Cellular components related to Achondroplasia according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.23 ACAN BMP8B COMP FGF3 FGFR1 FGFR2

Biological processes related to Achondroplasia according to GeneCards Suite gene sharing:

(showing 35, show less)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.93 MAP2K1 NPPC PTH1R SOX9
2 positive regulation of cell proliferation GO:0008284 9.88 FGF3 FGFR1 FGFR2 FGFR3 PTH1R SOX9
3 MAPK cascade GO:0000165 9.85 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
4 negative regulation of gene expression GO:0010629 9.84 FGFR1 MAP2K1 SOX9
5 positive regulation of protein kinase B signaling GO:0051897 9.84 FGF3 FGFR1 FGFR2 FGFR3
6 extracellular matrix organization GO:0030198 9.83 ACAN COMP SOX9
7 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.83 FGFR2 FGFR3 MAP2K1
8 protein autophosphorylation GO:0046777 9.81 FGFR1 FGFR2 FGFR3
9 positive regulation of MAPK cascade GO:0043410 9.79 FGFR1 FGFR2 FGFR3
10 phosphatidylinositol phosphorylation GO:0046854 9.78 FGF3 FGFR1 FGFR2 FGFR3
11 ossification GO:0001503 9.73 BMP8B NPPC PTH1R SOX9
12 peptidyl-tyrosine phosphorylation GO:0018108 9.72 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
13 bone mineralization GO:0030282 9.7 FGFR2 FGFR3 PTH1R
14 positive regulation of mesenchymal cell proliferation GO:0002053 9.67 FGFR1 FGFR2 SOX9
15 fibroblast growth factor receptor signaling pathway GO:0008543 9.67 FGF3 FGFR1 FGFR2 FGFR3
16 positive regulation of cardiac muscle cell proliferation GO:0060045 9.66 FGFR1 FGFR2
17 bone morphogenesis GO:0060349 9.65 FGFR2 FGFR3
18 ERK1 and ERK2 cascade GO:0070371 9.65 MAP2K1 SOX9
19 regulation of multicellular organism growth GO:0040014 9.64 FGFR2 NPPC
20 chondrocyte development GO:0002063 9.63 ACAN SOX9
21 branching involved in salivary gland morphogenesis GO:0060445 9.62 FGFR1 FGFR2
22 limb bud formation GO:0060174 9.62 FGFR2 SOX9
23 mesenchymal cell differentiation GO:0048762 9.61 FGFR1 FGFR2
24 lung-associated mesenchyme development GO:0060484 9.6 FGFR1 FGFR2
25 endochondral bone growth GO:0003416 9.59 FGFR2 FGFR3
26 lacrimal gland development GO:0032808 9.58 FGFR2 SOX9
27 otic vesicle formation GO:0030916 9.58 FGFR2 SOX9
28 prostate gland morphogenesis GO:0060512 9.57 FGFR2 SOX9
29 orbitofrontal cortex development GO:0021769 9.56 FGFR1 FGFR2
30 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.56 FGF3 FGFR1 FGFR2 FGFR3
31 ventricular zone neuroblast division GO:0021847 9.55 FGFR1 FGFR2
32 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 9.51 FGFR1 FGFR2
33 positive regulation of phospholipase activity GO:0010518 9.33 FGFR1 FGFR2 FGFR3
34 chondrocyte differentiation GO:0002062 9.26 FGFR1 FGFR3 PTH1R SOX9
35 skeletal system development GO:0001501 9.23 ACAN BMP8B COMP FGFR1 FGFR3 PTH1R

Molecular functions related to Achondroplasia according to GeneCards Suite gene sharing:

(showing 10, show less)
# Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.83 FGFR1 FGFR2 FGFR3 MAP2K1 SOX9
2 nucleotide binding GO:0000166 9.76 FGFR1 FGFR2 FGFR3 MAP2K1
3 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.67 FGF3 FGFR1 FGFR2 FGFR3
4 heparin binding GO:0008201 9.65 COMP FGFR1 FGFR2
5 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.58 FGFR1 FGFR2 FGFR3
6 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.56 FGF3 FGFR1 FGFR2 FGFR3
7 protein tyrosine kinase activity GO:0004713 9.55 FGF3 FGFR1 FGFR2 FGFR3 MAP2K1
8 fibroblast growth factor binding GO:0017134 9.5 FGFR1 FGFR2 FGFR3
9 1-phosphatidylinositol-3-kinase activity GO:0016303 9.26 FGF3 FGFR1 FGFR2 FGFR3
10 fibroblast growth factor-activated receptor activity GO:0005007 8.8 FGFR1 FGFR2 FGFR3

Sources for Achondroplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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